A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010704



Internal ID19099921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16617106..16721972hg38UCSC Ensembl
Innerchr1:16943601..17048467hg19UCSC Ensembl
Innerchr1:16816188..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38104867
hg19104867
hg18104867
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61n100
Supporting Variantsnssv3473225, nssv3473159, nssv3478355, nssv3468605, nssv3698899, nssv3471159, nssv3480586
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010704
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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