A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004005



Internal ID18746536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16695774hg38UCSC Ensembl
Innerchr1:16871266..17022269hg19UCSC Ensembl
Innerchr1:16743853..16894856hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38151004
hg19151004
hg18151004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n100
Supporting Variantsnssv3471757, nssv3698839, nssv3477735, nssv3482186, nssv3468535
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004005
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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