nsv930780

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,284

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 383 SVs from 45 studies. See in: genome view    
Remapped(Score: Perfect):162,316,992-162,319,275Question Mark
Overlapping variant regions from other studies: 383 SVs from 45 studies. See in: genome view    
Remapped(Score: Perfect):162,738,024-162,740,307Question Mark
Overlapping variant regions from other studies: 284 SVs from 21 studies. See in: genome view    
Submitted genomic162,658,014-162,660,297Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv930780RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6162,316,992162,319,275
nsv930780RemappedPerfectGRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6162,738,024162,740,307
nsv930780Submitted genomicNCBI36 (hg18)NC_000006.10Chr6162,658,014162,660,297

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical
nssv650228deletionOligo aCGH, SequencingProbe signal intensity, Sequence alignmentNeoplasmLikely benign
nssv650285deletionOligo aCGH, SequencingProbe signal intensity, Sequence alignmentParkinsonismLikely benign

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nssv650228RemappedPerfectNC_000006.12:g.162
316992_162319275de
l
GRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6162,316,992162,319,275
nssv650285RemappedPerfectNC_000006.12:g.162
316992_162319275de
l
GRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6162,316,992162,319,275
nssv650228RemappedPerfectNC_000006.11:g.162
738024_162740307de
l
GRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6162,738,024162,740,307
nssv650285RemappedPerfectNC_000006.11:g.162
738024_162740307de
l
GRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6162,738,024162,740,307
nssv650228Submitted genomicNC_000006.10:g.162
658014_162660297de
l
NCBI36 (hg18)NC_000006.10Chr6162,658,014162,660,297
nssv650285Submitted genomicNC_000006.10:g.162
658014_162660297de
l
NCBI36 (hg18)NC_000006.10Chr6162,658,014162,660,297

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeSubject PhenotypeClinical Interpretation
nssv650228NC_000006.10:g.162658014_162660297deldeletionNeoplasmLikely benign
nssv650285NC_000006.10:g.162658014_162660297deldeletionParkinsonismLikely benign

No genotype data were submitted for this variant

Support Center