A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023120



Internal ID18765653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30615454..31145482hg38UCSC Ensembl
Innerchr7:30655070..31185096hg19UCSC Ensembl
Innerchr7:30621595..31151621hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38530029
hg19530027
hg18530027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6316n100
Supporting Variantsnssv3643352
Samples
Known GenesADCYAP1R1, AQP1, CRHR2, FAM188B, GARS, GHRHR, INMT, INMT-FAM188B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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