GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3

Variation ID: Help
58029
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3

Allele ID:
72624
Variant type:
copy number gain
Cytogenetic location:
4q11-22
Genomic location:
  • Chr4: 51831622 - 97505618 (on Assembly GRCh38)
  • Chr4: 52697788 - 98426769 (on Assembly GRCh37)
  • Chr4: 52392545 - 98645792 (on Assembly NCBI36)
HGVS:
  • NC_000004.12:g.(?_51831622)_(97505618_?)dup (GRCh38)
  • NC_000004.10:g.(?_52392545)_(98645792_?)dup (NCBI36)
  • NC_000004.11:g.(?_52697788)_(98426769_?)dup (GRCh37)
Links:
dbVar: nsv530292

267 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 name
(Last submitted)
Submission accession
Pathogenic
(Aug 12, 2011)
criteria provided, single submitter
(Submitter's publication)
clinical testingnot providedISCA site 6

See additional submitters


Study description

(Jun 21, 2014)

SCV000079120.5
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
ISCA site 6not provided1not providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
ISCA site 6not provided1Developmental delay AND/OR other significant developmental or morphological phenotypes (yes)not providednot providednot provided

Last Updated: Jan 10, 2016