A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030704



Internal ID19119923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16196537..16231572hg38UCSC Ensembl
Innerchr7:16236162..16271197hg19UCSC Ensembl
Innerchr7:16202687..16237722hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3835036
hg1935036
hg1835036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643192
Samples
Known GenesISPD, ISPD-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030704
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer