A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010821



Internal ID18753353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16788205hg38UCSC Ensembl
Innerchr1:16909597..17114700hg19UCSC Ensembl
Innerchr1:16782184..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38205104
hg19205104
hg18205104
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv52n100
Supporting Variantsnssv3481022, nssv3463682, nssv3467953, nssv3480585, nssv3698877, nssv3469088, nssv3470608, nssv3478540
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)nsv1010821
Frequency
Sample Size29084
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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