GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2

Variation ID: Help
58800
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 12, 2011
Number of submission(s):
1
Condition(s):
See cases [See Supporting observations tab for details]
See supporting ClinVar records

Allele(s) Help

GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2

Allele ID:
73395
Variant type:
copy number gain
Cytogenetic location:
Yp11.2
Genomic location:
  • ChrY: 2786926 - 2994952 (on Assembly GRCh38)
  • ChrY: 2654967 - 2862993 (on Assembly GRCh37)
  • ChrY: 2714967 - 2922993 (on Assembly NCBI36)
HGVS:
  • NC_000024.10:g.(?_2786926)_(2994952_?)dup (GRCh38)
  • NC_000024.8:g.(?_2714967)_(2922993_?)dup (NCBI36)
  • NC_000024.9:g.(?_2654967)_(2862993_?)dup (GRCh37)
Links:

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

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
(Submitter's publication)
clinical testingde novoISCA site 6

See additional submitters


Study description
SCV000079943.5
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
ISCA site 6not provided1de novonot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jun 7, 2016