GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3

Variation ID: Help
58033
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3

Allele ID:
72628
Variant type:
copy number gain
Cytogenetic location:
4q22-28
Genomic location:
  • Chr4: 96092893 - 136410207 (on Assembly GRCh38)
  • Chr4: 97014044 - 137331362 (on Assembly GRCh37)
  • Chr4: 97233067 - 137550812 (on Assembly NCBI36)
HGVS:
  • NC_000004.12:g.(?_96092893)_(136410207_?)dup (GRCh38)
  • NC_000004.10:g.(?_97233067)_(137550812_?)dup (NCBI36)
  • NC_000004.11:g.(?_97014044)_(137331362_?)dup (GRCh37)
Links:

197 Affected genes

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 12, 2011)
criteria provided, single submitter
clinical testingnot provided
    GeneDxSCV000079124.4
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    GeneDxnot provided1not providednot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 20, 2017