A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978918



Internal ID18878967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75383011..75383193hg38UCSC Ensembl
Outerchr17:73379092..73379274hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140206
Supporting Variants
SamplesKWS1
Known GenesGRB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978918
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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